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Peroxisomes and peroxisomal disorders: The main facts [PDF]
Experimental and Toxicologic Pathology, 2010 The importance of peroxisomes for human health is highlighted by the number of peroxisomal disorders (PDs), diseases associated to peroxisome biogenesis disorders and peroxisomal enzyme/transporter deficiencies. Currently, many physiological/biosynthetic mechanisms involved in these illnesses have been elucidated, but PDs remain incurable.
Marco Fidaleo
exaly +6 more sources
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders
Neuropediatrics, 2016 Peroxisomal disorders are a heterogeneous group of genetic metabolic disorders, caused by a defect in peroxisome biogenesis or a deficiency of a single peroxisomal enzyme. The peroxisomal disorders include the Zellweger spectrum disorders, the rhizomelic
Hans Waterham +2 more
exaly +3 more sources
Pediatric Neurology Briefs, 1988 Generalized peroxisomal disorders are classified in three main groups in a review article from the Kennedy Institute and the Departments of Neurology and Pediatrics, Johns Hopkins University, 707 N. Broadway, Baltimore, MD.
J Gordon Millichap
doaj +4 more sources
International Journal of Neonatal Screening, 2021 We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyses ...
Hideo Sasai +2 more
exaly +2 more sources
PEX6 Mutations in Peroxisomal Biogenesis Disorders
Ophthalmology Science, 2021 Purpose: Peroxisomal biogenesis disorders (PBDs) represent a spectrum of conditions that result in vision loss, sensorineural hearing loss, neurologic dysfunction, and other abnormalities resulting from aberrant peroxisomal function caused by mutations ...
Matthew D. Benson, MD +6 more
doaj +2 more sources
Journal of Lipid Research, 2002 Phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) is a branched-chain fatty acid derived from dietary sources and broken down in the peroxisome to pristanic acid (2,6,10,14-tetramethylpentadecanoic acid) via α-oxidation.
S. Ferdinandusse +5 more
doaj +3 more sources
International Journal of Molecular Sciences, 2021 Peroxisomes are multifunctional organelles, well known for their role in cellular lipid homeostasis. Their importance is highlighted by the life-threatening diseases caused by peroxisomal dysfunction. Importantly, most patients suffering from peroxisomal
Yannick Das, Daniëlle Swinkels, M. Baes
semanticscholar +1 more source
Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters [PDF]
Journal of Clinical and Diagnostic Research, 2015 Introduction: Free radicals have been thought to participate in pathogenesis of peroxisomal disorders. Objective: The aim of the work is to detect free oxide radicals in blood of patients with peroxisomal disorders and to study their relation with ...
Sohair Abd-El Mawgood Abd-ElMaksoud +8 more
doaj +1 more source
LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders
Metabolites, 2021 Peroxisomes are central hubs for cell metabolism and their dysfunction is linked to devastating human disorders, such as peroxisomal biogenesis disorders and single peroxisomal enzyme/protein deficiencies.
Henry Gerd Klemp +5 more
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Insights Into the Peroxisomal Protein Inventory of Zebrafish
Frontiers in Physiology, 2022 Peroxisomes are ubiquitous, oxidative subcellular organelles with important functions in cellular lipid metabolism and redox homeostasis. Loss of peroxisomal functions causes severe disorders with developmental and neurological abnormalities.
Maki Kamoshita +8 more
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